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Is retinoblastoma truly an autosomal dominant condition?

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Final answer:

Retinoblastoma is an autosomal dominant condition where only one mutated allele is needed to develop the disease. The RB1 gene mutation leads to loss of cell cycle regulation by the Rb protein, which can cause uncontrolled cellular growth in the retina. This genetic condition can be transmitted from an affected parent to their offspring, following the typical pattern of autosomal dominant inheritance.

Step-by-step explanation:

Retinoblastoma is indeed an autosomal dominant condition. This means that only one allele of the gene needs to be mutated for a person to develop the disorder. In retinoblastoma, the RB1 gene on chromosome 13 is mutated, leading to uncontrolled cell growth in the retina and potentially cancer. However, it is key to note that some cases of retinoblastoma are not inherited but occur as a new mutation. Furthermore, the presence of a single mutated gene (heterozygosity) can lead to cancer due to a loss of function in the Rb protein, which normally helps regulate the cell cycle and prevent uncontrolled cell division.In familial cases where the condition is inherited, vertical transmission from a parent with a mutated gene can occur, which means that the child has a 50 percent chance of inheriting the condition, following the pattern of autosomal dominant inheritance.

The Rb protein typically interacts with a G₁ cdk enzyme to prevent the cell from entering the S phase of the cell cycle improperly. When the Rb gene is mutated, this control is lost, and cells can start to proliferate unchecked, leading to cancerous growth.Retinoblastoma is an autosomal dominant condition. Autosomal dominant inheritance means that only one copy of the mutated gene is needed for a person to have the condition. In the case of retinoblastoma, a mutation in the retinoblastoma gene can lead to the development of retinal cancer. The presence of the mutation increases the risk of developing the disease, and individuals with the mutation have a 50% chance of passing it on to their children.

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